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Overview

Uniprot IDA6NHR9
Protein NameStructural maintenance of chromosomes flexible hinge domain-containing protein 1
Gene NameSMCHD1
OrganismHomo sapiens

Kla Sites from experimental identification

Position Flanking peptide
1966 LGMTPIRKCNDSLRH
1987 TDCPVPPKRMRREAT
2002 RQNRIITKTDV****

Function

Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin (PubMed:23542155). Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X (By similarity). Required to facilitate Xist RNA spreading (By similarity). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus (PubMed:23143600). Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation (PubMed:29748383). Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks (PubMed:24790221, PubMed:25294876). Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair (PubMed:25294876)

Protein Sequence

10 MAAADGGGPG 20 GASVGTEEDG 30 GGVGHRTVYL 40 FDRREKESEL 50 GDRPLQVGER 60 SDYAGFRACV 70 CQTLGISPEE 80 KFVITTTSRK 90 EITCDNFDET 100 VKDGVTLYLL 110 QSVNQLLLTA 120 TKERIDFLPH 130 YDTLVKSGMY 140 EYYASEGQNP 150 LPFALAELID 160 NSLSATSRNI 170 GVRRIQIKLL 180 FDETQGKPAV 190 AVIDNGRGMT 200 SKQLNNWAVY 210 RLSKFTRQGD 220 FESDHSGYVR 230 PVPVPRSLNS 240 DISYFGVGGK 250 QAVFFVGQSA 260 RMISKPADSQ 270 DVHELVLSKE 280 DFEKKEKNKE 290 AIYSGYIRNR 300 KPSDSVHITN 310 DDERFLHHLI 320 IEEKEKDSFT 330 AVVITGVQPE 340 HIQYLKNYFH 350 LWTRQLAHIY 360 HYYIHGPKGN 370 EIRTSKEVEP 380 FNNIDIEISM 390 FEKGKVPKIV 400 NLREIQDDMQ 410 TLYVNTAADS 420 FEFKAHVEGD 430 GVVEGIIRYH 440 PFLYDRETYP 450 DDPCFPSKLK 460 DEDDEDDCFI 470 LEKAARGKRP 480 IFECFWNGRL 490 IPYTSVEDFD 500 WCTPPKKRGL 510 APIECYNRIS 520 GALFTNDKFQ 530 VSTNKLTFMD 540 LELKLKDKNT 550 LFTRILNGQE 560 QRMKIDREFA 570 LWLKDCHEKY 580 DKQIKFTLFK 590 GVITRPDLPS 600 KKQGPWATYA 610 AIEWDGKIYK 620 AGQLVKTIKT 630 LPLFYGSIVR 640 FFLYGDHDGE 650 VYATGGEVQI 660 AMEPQALYDE 670 VRTVPIAKLD 680 RTVAEKAVKK 690 YVEDEMARLP 700 DRLSVTWPEG 710 DELLPNEVRP 720 AGTPIGALRI 730 EILNKKGEAM 740 QKLPGTSHGG 750 SKKLLVELKV 760 ILHSSSGNKE 770 IISHISQHGG 780 KWPYWFKKME 790 NIQKLGNYTL 800 KLQVVLNESN 810 ADTYAGRPLP 820 SKAIKFSVKE 830 GKPEKFSFGL 840 LDLPFRVGVP 850 FNIPLEFQDE 860 FGHTSQLVTD 870 IQPVLEASGL 880 SLHYEEITKG 890 PNCVIRGVTA 900 KGPVNSCQGK 910 NYNLKVTLPG 920 LKEDSQILKI 930 RLLPGHPRRL 940 KVKPDSEILV 950 IENGTAFPFQ 960 VEVLDESDNI 970 TAQPKLIVHC 980 KFSGAPNLPV 990 YVVDCSSSGT 1000 SILTGSAIQV 1010 QNIKKDQTLK 1020 ARIEIPSCKD 1030 VAPVEKTIKL 1040 LPSSHVARLQ 1050 IFSVEGQKAI 1060 QIKHQDEVNW 1070 IAGDIMHNLI 1080 FQMYDEGERE 1090 INITSALAEK 1100 IKVNWTPEIN 1110 KEHLLQGLLP 1120 DVQVPTSVKD 1130 MRYCQVSFQD 1140 DHVSLESAFT 1150 VRPLPDEPKH 1160 LKCEMKGGKT 1170 VQMGQELQGE 1180 VVIIITDQYG 1190 NQIQAFSPSS 1200 LSSLSIAGVG 1210 LDSSNLKTTF 1220 QENTQSISVR 1230 GIKFIPGPPG 1240 NKDLCFTWRE 1250 FSDFIRVQLI 1260 SGPPAKLLLI 1270 DWPELKESIP 1280 VINGRDLQNP 1290 IIVQLCDQWD 1300 NPAPVQHVKI 1310 SLTKASNLKL 1320 MPSNQQHKTD 1330 EKGRANLGVF 1340 SVFAPRGEHT 1350 LQVKAIYNKS 1360 IIEGPIIKLM 1370 ILPDPEKPVR 1380 LNVKYDKDAS 1390 FLAGGLFTDF 1400 MISVISEDDS 1410 IIKNINPARI 1420 SMKMWKLSTS 1430 GNRPPANAET 1440 FSCNKIKDND 1450 KEDGCFYFRD 1460 KVIPNKVGTY 1470 CIQFGFMMDK 1480 TNILNSEQVI 1490 VEVLPNQPVK 1500 LVPKIKPPTP 1510 AVSNVRSVAS 1520 RTLVRDLHLS 1530 ITDDYDNHTG 1540 IDLVGTIIAT 1550 IKGSNEEDTD 1560 TPLFIGKVRT 1570 LEFPFVNGSA 1580 EIMSLVLAES 1590 SPGRDSTEYF 1600 IVFEPRLPLL 1610 SRTLEPYILP 1620 FMFYNDVKKQ 1630 QQMAALTKEK 1640 DQLSQSIVMY 1650 KSLFEASQQL 1660 LNEMKCQVEE 1670 ARLKEAQLRN 1680 ELKIHNIDIP 1690 TTQQVPHIEA 1700 LLKRKLSEQE 1710 ELKKKPRRSC 1720 TLPNYTKGSG 1730 DVLGKIAHLA 1740 QIEDDRAAMV 1750 ISWHLASDMD 1760 CVVTLTTDAA 1770 RRIYDETQGR 1780 QQVLPLDSIY 1790 KKTLPDWKRS 1800 LPHFRNGKLY 1810 FKPIGDPVFA 1820 RDLLTFPDNV 1830 EHCETVFGML 1840 LGDTIILDNL 1850 DAANHYRKEV 1860 VKITHCPTLL 1870 TRDGDRIRSN 1880 GKFGGLQNKA 1890 PPMDKLRGMV 1900 FGAPVPKQCL 1910 ILGEQIDLLQ 1920 QYRSAVCKLD 1930 SVNKDLNSQL 1940 EYLRTPDMRK 1950 KKQELDEHEK 1960 NLKLIEEKLG 1970 MTPIRKCNDS 1980 LRHSPKVETT 1990 DCPVPPKRMR 2000 REATRQNRII TKTDV

Gene Ontology

Classification GO ID Description
Cellular Component GO:0001740 Barr body
Cellular Component GO:0016604 nuclear body
Cellular Component GO:0005654 nucleoplasm
Cellular Component GO:0035861 site of double-strand break
Molecular Function GO:0005524 ATP binding
Molecular Function GO:0016887 ATP hydrolysis activity
Molecular Function GO:0003677 DNA binding
Molecular Function GO:0042803 protein homodimerization activity
Biological Process GO:0051276 chromosome organization
Biological Process GO:0009048 dosage compensation by inactivation of X chromosome
Biological Process GO:0006302 double-strand break repair
Biological Process GO:2000042 negative regulation of double-strand break repair via homologous recombination
Biological Process GO:0043584 nose development
Biological Process GO:0045739 positive regulation of DNA repair
Biological Process GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining

Reference

[1] Yang D, Yin J, Shan L, Yi X, Zhang W et al.. Identification of lysine-lactylated substrates in gastric cancer cells.. iScience 25(7):104630. 2022 Jul 15. PMID: 35800753.

[2] Yang Z, Yan C, Ma J, Peng P, Ren X et al.. Lactylome analysis suggests lactylation-dependent mechanisms of metabolic adaptation in hepatocellular carcinoma.. Nat Metab 5(1):61-79. 2023 Jan. PMID: 36593272.

[3] He C, Zhang J, Bai X, Lu C, Zhang K. Lysine lactylation-based insight to understanding the characterization of cervical cancer.. Biochim Biophys Acta Mol Basis Dis 1870(7):167356. 2024 Oct. PMID: 39025375.

[4] Wu Q, Li Z, Gong T, Zheng X, Zhou X et al.. Porphyromonas gingivalis infection induces lysine lactylation reprogramming in human umbilical vein endothelial cells.. Front Cell Infect Microbiol 16:1706727. 2026. PMID: 41696360.